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CFH and VIPR2 as susceptibility loci in choroidal thickness and pachychoroid disease central serous chorioretinopathy.

Publication ,  Journal Article
Hosoda, Y; Yoshikawa, M; Miyake, M; Tabara, Y; Ahn, J; Woo, SJ; Honda, S; Sakurada, Y; Shiragami, C; Nakanishi, H; Oishi, A; Ooto, S; Miki, A ...
Published in: Proc Natl Acad Sci U S A
June 12, 2018

Central serous chorioretinopathy (CSC) is a common disease affecting younger people and may lead to vision loss. CSC shares phenotypic overlap with age-related macular degeneration (AMD). As recent studies have revealed a characteristic increase of choroidal thickness in CSC, we conducted a genome-wide association study on choroidal thickness in 3,418 individuals followed by TaqMan assays in 2,692 subjects, and we identified two susceptibility loci: CFH rs800292, an established AMD susceptibility polymorphism, and VIPR2 rs3793217 (P = 2.05 × 10-10 and 6.75 × 10-8, respectively). Case-control studies using patients with CSC confirmed associations between both polymorphisms and CSC (P = 5.27 × 10-5 and 5.14 × 10-5, respectively). The CFH rs800292 G allele is reportedly a risk allele for AMD, whereas the A allele conferred risk for thicker choroid and CSC development. This study not only shows that susceptibility genes for CSC could be discovered using choroidal thickness as a defining variable but also, deepens the understanding of differences between CSC and AMD pathophysiology.

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Published In

Proc Natl Acad Sci U S A

DOI

EISSN

1091-6490

Publication Date

June 12, 2018

Volume

115

Issue

24

Start / End Page

6261 / 6266

Location

United States

Related Subject Headings

  • Receptors, Vasoactive Intestinal Peptide, Type II
  • Polymorphism, Single Nucleotide
  • Middle Aged
  • Macular Degeneration
  • Humans
  • Genome-Wide Association Study
  • Genetic Predisposition to Disease
  • Complement Factor H
  • Choroid
  • Central Serous Chorioretinopathy
 

Citation

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Hosoda, Y., Yoshikawa, M., Miyake, M., Tabara, Y., Ahn, J., Woo, S. J., … Yamashiro, K. (2018). CFH and VIPR2 as susceptibility loci in choroidal thickness and pachychoroid disease central serous chorioretinopathy. Proc Natl Acad Sci U S A, 115(24), 6261–6266. https://doi.org/10.1073/pnas.1802212115
Hosoda, Yoshikatsu, Munemitsu Yoshikawa, Masahiro Miyake, Yasuharu Tabara, Jeeyun Ahn, Se Joon Woo, Shigeru Honda, et al. “CFH and VIPR2 as susceptibility loci in choroidal thickness and pachychoroid disease central serous chorioretinopathy.Proc Natl Acad Sci U S A 115, no. 24 (June 12, 2018): 6261–66. https://doi.org/10.1073/pnas.1802212115.
Hosoda Y, Yoshikawa M, Miyake M, Tabara Y, Ahn J, Woo SJ, et al. CFH and VIPR2 as susceptibility loci in choroidal thickness and pachychoroid disease central serous chorioretinopathy. Proc Natl Acad Sci U S A. 2018 Jun 12;115(24):6261–6.
Hosoda, Yoshikatsu, et al. “CFH and VIPR2 as susceptibility loci in choroidal thickness and pachychoroid disease central serous chorioretinopathy.Proc Natl Acad Sci U S A, vol. 115, no. 24, June 2018, pp. 6261–66. Pubmed, doi:10.1073/pnas.1802212115.
Hosoda Y, Yoshikawa M, Miyake M, Tabara Y, Ahn J, Woo SJ, Honda S, Sakurada Y, Shiragami C, Nakanishi H, Oishi A, Ooto S, Miki A, Nagahama Study Group, Iida T, Iijima H, Nakamura M, Khor CC, Wong TY, Song K, Park KH, Yamada R, Matsuda F, Tsujikawa A, Yamashiro K. CFH and VIPR2 as susceptibility loci in choroidal thickness and pachychoroid disease central serous chorioretinopathy. Proc Natl Acad Sci U S A. 2018 Jun 12;115(24):6261–6266.
Journal cover image

Published In

Proc Natl Acad Sci U S A

DOI

EISSN

1091-6490

Publication Date

June 12, 2018

Volume

115

Issue

24

Start / End Page

6261 / 6266

Location

United States

Related Subject Headings

  • Receptors, Vasoactive Intestinal Peptide, Type II
  • Polymorphism, Single Nucleotide
  • Middle Aged
  • Macular Degeneration
  • Humans
  • Genome-Wide Association Study
  • Genetic Predisposition to Disease
  • Complement Factor H
  • Choroid
  • Central Serous Chorioretinopathy